L204F (p.Leu204Phe) variant of FOXG1 (Forkhead box protein G1)
L204F (p.Leu204Phe) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
L204F (p.Leu204Phe) variant details
- p.Leu204Phe
- rs786205006
- ClinGen CA235614
- ClinVar RCV000170079
- ClinVar RCV006276079
- Pathogenic/Likely pathogenic
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (not provided; FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)